EP1989328A4 - Methodes diagnostiques liees au bbs10 et reactifs pour syndrome de bardet-biedl - Google Patents

Methodes diagnostiques liees au bbs10 et reactifs pour syndrome de bardet-biedl

Info

Publication number
EP1989328A4
EP1989328A4 EP07757393A EP07757393A EP1989328A4 EP 1989328 A4 EP1989328 A4 EP 1989328A4 EP 07757393 A EP07757393 A EP 07757393A EP 07757393 A EP07757393 A EP 07757393A EP 1989328 A4 EP1989328 A4 EP 1989328A4
Authority
EP
European Patent Office
Prior art keywords
bbs10
bardet
reagents
diagnostic methods
methods related
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Withdrawn
Application number
EP07757393A
Other languages
German (de)
English (en)
Other versions
EP1989328A2 (fr
Inventor
Nicholas Katsanis
Helene Dollfus
Corinne Stoetzel
Erica E Davis
Philip Beals
Jean-Louis Mandel
Richard Alan Lewis
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Universite de Strasbourg
College de France
UCL Institute of Child Health
Baylor College of Medicine
Johns Hopkins University
Original Assignee
Universite de Strasbourg
College de France
UCL Institute of Child Health
Baylor College of Medicine
Johns Hopkins University
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Universite de Strasbourg, College de France, UCL Institute of Child Health, Baylor College of Medicine, Johns Hopkins University filed Critical Universite de Strasbourg
Publication of EP1989328A2 publication Critical patent/EP1989328A2/fr
Publication of EP1989328A4 publication Critical patent/EP1989328A4/fr
Withdrawn legal-status Critical Current

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Peptides Or Proteins (AREA)
EP07757393A 2006-02-23 2007-02-23 Methodes diagnostiques liees au bbs10 et reactifs pour syndrome de bardet-biedl Withdrawn EP1989328A4 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US77618806P 2006-02-23 2006-02-23
PCT/US2007/062669 WO2007101094A2 (fr) 2006-02-23 2007-02-23 Méthodes diagnostiques liées au bbs10 et réactifs pour syndrome de bardet-biedl

Publications (2)

Publication Number Publication Date
EP1989328A2 EP1989328A2 (fr) 2008-11-12
EP1989328A4 true EP1989328A4 (fr) 2009-07-01

Family

ID=38459747

Family Applications (1)

Application Number Title Priority Date Filing Date
EP07757393A Withdrawn EP1989328A4 (fr) 2006-02-23 2007-02-23 Methodes diagnostiques liees au bbs10 et reactifs pour syndrome de bardet-biedl

Country Status (3)

Country Link
US (1) US8163482B2 (fr)
EP (1) EP1989328A4 (fr)
WO (1) WO2007101094A2 (fr)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN104694538B (zh) * 2015-01-28 2018-02-27 中国农业大学 与鸡多趾性状相关的snp分子标记及其应用
US10140708B2 (en) * 2016-01-21 2018-11-27 Riverside Research Institute Method for gestational age estimation and embryonic mutant detection
GB201707212D0 (en) * 2017-05-05 2017-06-21 Ucl Business Plc Gene therapy for ciliopathies
US20200316224A1 (en) * 2019-04-05 2020-10-08 Elise Kendall Patchett Method and Kit for Treatment of Genetic Congenital Birth Defects

Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2003040369A2 (fr) * 2001-09-17 2003-05-15 Molecular Engines Laboratories Sequences impliquees dans les phenomenes de suppression tumorale, reversion tumorale, apoptose et/ou resistance aux virus et leur utilisation comme medicaments
WO2003093427A2 (fr) * 2002-04-30 2003-11-13 Incyte Corporation Molecules utilisees dans la detection et le traitement de maladies
WO2003102141A2 (fr) * 2002-05-30 2003-12-11 University Of Iowa Research Foundation Identification d'un gene provoquant la forme la plus commune du syndrome de bardet-biedl et ses applications
WO2004048511A2 (fr) * 2002-11-26 2004-06-10 Rosetta Genomics Ltd. Groupe detectable par bio-informatique, de nouveaux genes regulateurs viraux, et utilisations de ceux-ci
WO2005113812A2 (fr) * 2004-04-23 2005-12-01 Invitrogen Corporation Collections de reactifs biologiques adaptes et procedes d'identification de reactifs adaptes
WO2008016356A2 (fr) * 2006-08-02 2008-02-07 Genizon Biosciences Carte génique des gènes humains associés au psoriaris

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2388922A1 (fr) * 1999-11-19 2001-05-25 Human Genome Sciences, Inc. 23 proteines humaines secretees

Patent Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2003040369A2 (fr) * 2001-09-17 2003-05-15 Molecular Engines Laboratories Sequences impliquees dans les phenomenes de suppression tumorale, reversion tumorale, apoptose et/ou resistance aux virus et leur utilisation comme medicaments
WO2003093427A2 (fr) * 2002-04-30 2003-11-13 Incyte Corporation Molecules utilisees dans la detection et le traitement de maladies
WO2003102141A2 (fr) * 2002-05-30 2003-12-11 University Of Iowa Research Foundation Identification d'un gene provoquant la forme la plus commune du syndrome de bardet-biedl et ses applications
WO2004048511A2 (fr) * 2002-11-26 2004-06-10 Rosetta Genomics Ltd. Groupe detectable par bio-informatique, de nouveaux genes regulateurs viraux, et utilisations de ceux-ci
WO2005113812A2 (fr) * 2004-04-23 2005-12-01 Invitrogen Corporation Collections de reactifs biologiques adaptes et procedes d'identification de reactifs adaptes
WO2008016356A2 (fr) * 2006-08-02 2008-02-07 Genizon Biosciences Carte génique des gènes humains associés au psoriaris

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
BADANO JOSE L ET AL: "Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locu", HUMAN MOLECULAR GENETICS, vol. 12, no. 14, 15 July 2003 (2003-07-15), pages 1651 - 1659, XP002524997 *
DOLLFUS HÉLÈNE ET AL: "Bardet-Biedl syndrome: a unique family for a major gene (BBS10) = Syndrome de Bardet-Biedl : une famille unique pour un gène majeur (BBS10)", M/S MEDECINE SCIENCES, SOCIETE DES PERIODIQUES FLAMMARION, PARIS, FR, vol. 22, no. 11, 1 November 2006 (2006-11-01), pages 901 - 904, XP009115688, ISSN: 0767-0974 *
KATSANIS NICHOLAS; LUPSKI JAMES R; BEALES PHILIP L: "Exploring the molecular basis of Bardet-Biedl syndrome", HUMAN MOLECULAR GENETICS, vol. 10, no. 20, 1 October 2001 (2001-10-01), pages 2293 - 2299, XP002524996 *
LAURIER VIRGINIE ET AL: "Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism", EUROPEAN JOURNAL OF HUMAN GENETICS, KARGER, BASEL, CH, vol. 14, no. 11, 1 November 2006 (2006-11-01), pages 1195 - 1203, XP009115689, ISSN: 1018-4813 *
WHITE DOMINIC R A ET AL: "Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10", EUROPEAN JOURNAL OF HUMAN GENETICS, KARGER, BASEL, CH, vol. 15, no. 2, 1 February 2007 (2007-02-01), pages 173 - 178, XP009115690, ISSN: 1018-4813, [retrieved on 20061115] *

Also Published As

Publication number Publication date
US20100130429A1 (en) 2010-05-27
WO2007101094A3 (fr) 2008-11-13
WO2007101094A9 (fr) 2007-11-22
US8163482B2 (en) 2012-04-24
WO2007101094A2 (fr) 2007-09-07
EP1989328A2 (fr) 2008-11-12

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RIN1 Information on inventor provided before grant (corrected)

Inventor name: LEWIS, RICHARD, ALAN

Inventor name: MANDEL, JEAN-LOUIS

Inventor name: BEALS, PHILIP

Inventor name: DAVIS, ERICA, E.

Inventor name: STOETZEL, CORINNE

Inventor name: DOLLFUS, HELENE

Inventor name: KATSANIS, NICHOLAS

R17D Deferred search report published (corrected)

Effective date: 20081113

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Ipc: A61K 38/16 20060101ALI20081118BHEP

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